Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49435569_49435570delinsCA , CM000668.2:g.49435569_49435570delinsCA | GRCh38 |
| NC_000006.11:g.49403282_49403283delinsCA , CM000668.1:g.49403282_49403283delinsCA | GRCh37 |
| NC_000006.10:g.49511241_49511242delinsCA | NCBI36 |
| NG_007100.1:g.32570_32571delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2010_2011delinsTG MANE Select | NP_000246.2:p.Ile671Val |
| ENST00000274813.4:c.2010_2011delinsTG MANE Select | ENSP00000274813.3:p.Ile671Val |
| NM_000255.3:c.2010_2011delinsTG | NP_000246.2:p.Ile671Val |
| ENST00000274813.3:c.2010_2011delinsTG | ENSP00000274813.3:p.Ile671Val |
| XM_005249143.2:c.2010_2011delinsTG | XP_005249200.1:p.Ile671Val |
| XM_005249143.3:c.2010_2011delinsTG | XP_005249200.1:p.Ile671Val |